• 한국간호교육학회지
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• 제12권2호
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• pp.272-279
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• 2006

Background: After Genome project, cancer genetic information is being rapidly changing. Everyday nurses are incorporating current cancer genetic knowledge and genetic testing into their practice. So their cancer genetic knowledge is important for ensuring quality of cancer patient care and education. Purpose: This study is performed for describing the Korean nurses' current knowledge level about the hereditary breast cancer. Method: This national wide survey used 15-item questionnaire which is modified from the Breast Cancer Genetic Counseling Knowledge Questionnaire originally developed by Erblich et al.(2005). Three hundred and nine nurses were recruited for this survey from April 1, 2006 to September 30, 2006. Result: Nurses' knowledge level about the hereditary breast cancer was not high. Clinical nurses with master degree, working large hospital located in Seoul had higher knowledge about hereditary breast cancer. Education related to cancer genetics was significantly impact on the level of nurses' knowledge. Conclusion: Cancer genetic educational program for Korean nurses is strongly needed for delivering cancer care services sensitive to ever-changing cancer genetic information.

• Journal of Yeungnam Medical Science
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• 제37권4호
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• pp.341-344
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• 2020

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.

• 전산구조공학
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• 제6권2호
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• pp.103-114
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• 1993

유전적분형 물성방정식에 근거한 선형 점탄성문제의 효율적인 수치해석을 위해서 새로운 유한요소해법을 공식화하였다. 각 시간구간에서 변수변화를 선형적으로 가정하고 유전적분의 계산을 매우 효율적으로 처리하였다. 그 결과 과거의 해석법에 비하여 수치정확도 및 경제성에서 큰 향상을 얻었다.

• Annals of Clinical Neurophysiology
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• 제7권2호
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• pp.138-140
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• 2005

Strumpell, in 1880, was the first to describe familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs with little or no involvement of the upper extremities. This syndrome is heterogeneous in inheritance, age of onset, severity and associated signs. We present one family with autosomal dominant hereditary spastic paraplegia (HSP) due to SPG4 (spastin) gene mutation which is confirmed by genomic DNA isolated from peripheral blood.

• Journal of Korean Neurosurgical Society
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• 제45권5호
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• pp.309-311
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• 2009

Cervical cord compression due to osteochondroma in hereditary multiple exostosis (HME) is a rare condition, especially in young children. In this report, we discuss a rare case of cervical osteochondroma presenting as Brown-Sequard syndrome (BSS) in a 7-year-old boy with HME. The child was admitted because of hemiparesis involving the right limbs and hypoesthesia on the left side following mild trauma. MR image revealed cord compression by osteochondroma of the C7 lamina. We removed the osteocondroma and the neurological deficit was improved.

• Clinical and Experimental Pediatrics
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• 제50권10호
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• pp.1018-1023
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• 2007

유전성 출혈성 모세혈관 확장증은 피부 점막 모세혈관확장증, 동정맥기형, 가족력을 3대 증상으로 하는 상염색체 우성 유전성 질환이다. 빈번한 코피가 가장 흔한 증상이며 폐, 뇌, 간 등에 동정맥기형이 동반될 수 있다. 저자들은 빈번한 코피, 폐와 뇌동정맥기형, 가족력을 가진 유전성 출혈성 모세혈관확장증 1례를 경험하고 이를 보고하는 바이다.

• 대한기관식도과학회:학술대회논문집
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• 대한기관식도과학회 1978년도 제12차 학술대회연제 순서 및 초록
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• pp.7.2-7
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• 1978

유전성 난청은 거의 60종이 보고되었는데 대부분 동일 유전자에 의하여 다른 선친성 기형 또는 질병을 동반하고 있으나 단지 12여종에서 다른 기형을 동반하지 않고 난청만을 보이게 된다. 저자들은 유전형태가 비슷한 가족성 난청을 가진 두 가계를 경험하였기에 보고하는 바이다. 이들은 상염색체성 우성 유전의 형태를 보였고 소년기때 난청이 발생하였으며 점진적이고 양측이 동일한 중등도 내지 고도의 감각신경성 난청을 보였다. 청력도상 수평형을 보였고 전정기능 검사는 정상이었으며 동반된 기형을 발견할 수 없었다.

• Annals of Clinical Neurophysiology
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• 제22권2호
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• pp.121-124
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• 2020

The most common form of autosomal recessive hereditary spastic paraplegia (HSP) is caused by mutations in SPG11/KIAA1840 gene, which encodes for spatacsin. The clinical presentation of SPG11 is characterized by cognitive impairment, peripheral neuropathy and a thin corpus callosum in brain magnetic resonance imaging. We identified a novel homozygous nonsense mutation (c.6082C>T [p.Q2028]) in exon 32 of SPG11 in Korean siblings. Our findings suggest that this novel homozygous mutation in SPG11 is associated with HSP and with dysgenesis of the corpus callosum.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권4호
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• pp.392-399
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• 2019

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

• Korean Journal of Mathematics
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• 제24권3호
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• pp.369-374
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• 2016

In this paper, we study the hereditary convex radius of convex harmonic mapping $f(z)=f_1(z)+{\bar{f_x(z)}}$ under the integral operator $I_f(z)={\int_{o}^{z}}{\frac{f_1(u)}{u}}du+{\bar{{\int_{o}^{z}}{\frac{f_x(u)}{u}}}}$ and obtain the sharp constant ${\frac{{\sqrt[4]{6}}-{\sqrt[]{15}}}{9}}$, which generalized the result corresponding to the class of analytic functions given by Nash.